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Author

J. Casanova

2 papers indexed here

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Open access Oct 2026

Clinical manifestations of patients with STAT1 gain-of-function variants in Mexico

This cohort illustrates the broad clinical spectrum of STAT1 GOF disease, including infectious, inflammatory, autoimmune, and hematological manifestations, and BCG disease and tuberculosis were observed in a subset of patients, highlighting the complexity of clinical presentation and the importance of comprehensive eva...

T. Cova-Guzmán, Satoshi Okada, M. Tsumura et al. · 0 citations
Case report Open access Sep 2026

Mild Phenotype in Functionally Validated STAT1 Gain‐of‐Function Disease Due to a Novel DNA‐Binding Variant

Signal transducer and activator of transcription 1 (STAT1) gain‐of‐function (GOF) disease is associated with chronic mucocutaneous candidiasis, infections, autoimmunity, and immune dysregulation; however, mutation‐level determinants of phenotypic variability remain incompletely defined. We aimed to describe the clinica...

B. C. Duran, C. Aytekin, M. Tsumura et al. · 0 citations

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